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Why a Biobank?
The genetic rarity of neuromuscular disorders (NMDs) has lowered the understanding of their mechanisms and slowed the development of therapies.
The lack of access to patient tissue and patient derived primary cell cultures for many basic scientists has also slowed down progress.
Recent advances have led to the discovery of the majority of the genes responsible for NMDs, and this has improved the understanding of mechanisms involved in these diseases which could be targeted by specific intervention.
In order to take advantage of the large neuromuscular patient population seen at the MRC Centre in London and Newcastle, and to facilitate the translational research activities of the Centre, we have decided to create a bank of human muscle and non-muscle cells from patients with NMDs.
In particular we collect tissues and primary cell cultures from skin, muscle, stem cells and nerve from patients with genetically determined NMDs.
Use of Biobank materials
A number of projects already initiated (such as the antisense oligonucleotide approach to induce exon skipping in Duchenne muscular dystrophy) are dependent on the availability of such cell cultures, and future projects will use this material to investigate biomarkers predictive of therapeutic response in therapeutic trials and analyse the stratification of response.
Access and Ethics
The ultimate goal of this biobank is to provide an ethically robust and durable framework to collect unique material and make it available to investigators involved in the MRC Centre, but also facilitate access to collections by UK partners and other EU partners. Similar biobanks already exist in other EU countries, and this new MRC initiative will work in partnership with the European Network Eurobiobank, which, together with the EU Network of Excellence TREAT-NMD, will facilitate collaboration and translational research in UK and Europe.
Contacts
CNMD Biobank London
Tel: +44 (0)20 7905 2221
CNMD Biobank Newcastle
Tel: +44 (0)191 282 8834